The Antibiotic Rifampin to Reduce High Levels of Blood and Urine Calcium in IIH
Status:
Recruiting
Trial end date:
2021-12-31
Target enrollment:
Participant gender:
Summary
Idiopathic infantile hypercalcemia(IIH) is a rare,genetic disorder of mineral metabolism.
Biallelic loss of functions mutations of CYP24A1, the gene encoding the 24-hydroxylase enzyme
that represents the principal pathway for inactivation of vitamin D metabolites, cause the
most common and severe form of IIH.Investigators have preliminary data supporting a novel
therapeutic approach to suggest rifampin as an investigational drug to induce over-expression
of CYP3A4, an important enzyme that provides an alternate catabolic pathway for inactivation
of vitamin D metabolites. In this study, investigators will recruit 5 patients with biallelic
inactivating mutations of CYP24A1. Participants will be followed prospectively for a total
6-11 months. This will include 2 months of observation, 2 months of receiving the starting
dose of rifampin, followed by 2 month washout phase. Efficacy of the starting dose of
rifampin will be determined prior to proceeding only in non responders to the escalation dose
of rifampin 10mg/kg/day.
Phase:
Phase 1
Details
Lead Sponsor:
The Hospital for Sick Children
Collaborators:
Canadian Institutes of Health Research (CIHR) Children's Hospital of Philadelphia Cures Within Reach